| Gene Information | |
|---|---|
| Gene Name | PARK2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 465 |
| Protein Names | E3 ubiquitin-protein ligase parkin (Parkin) (EC 2.3.2.31) (Parkin RBR E3 ubiquitin-protein ligase) (Parkinson juvenile disease protein 2) (Parkinson disease protein 2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O60260 |
| Gene Card | PRKN |
| Uniprot ID | O60260 |
| Pfam | PF00240; PF17976; PF17978 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Highly expressed in the brain including the substantia nigra (PubMed:9560156, PubMed:19501131). Expressed in heart, testis and skeletal muscle (PubMed:9560156). Expression is down-regulated or absent in tumor biopsies, and absent in the brain of PARK2 patients (PubMed:14614460, PubMed:12719539). Overexpression protects dopamine neurons from kainate-mediated apoptosis (PubMed:12628165). Found in serum (at protein level) (PubMed:19501131). {ECO:0000269|PubMed:12628165, ECO:0000269|PubMed:12719539, ECO:0000269|PubMed:14614460, ECO:0000269|PubMed:19501131, ECO:0000269|PubMed:9560156}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1IYF (NMR - ) 2JMO (NMR - ) 4BM9 (X-ray 2.25A ) 4I1F (X-ray 1.58A ) 4I1H (X-ray 2.00A ) 5C1Z (X-ray 1.79A ) 5C23 (X-ray 2.37A ) 5C9V (X-ray 2.35A ) 5N2W (X-ray 2.68A ) 5N38 (X-ray 2.60A ) 5TR5 (NMR - ) 6GLC (X-ray 1.80A ) 6HUE (X-ray 2.85A ) 6N13 (NMR - ) |
| DBSNP | rs532703934 rs147757966 rs148990138 rs368134308 rs137853059 rs55774500 rs566229879 rs1256316516 rs137853057 rs1801474 rs9456735 rs9456735 rs137853060 rs137853058 rs137853054 rs137853054 rs747427602 rs150562946 rs772622421 rs34424986 rs72480422 rs751037529 rs55961220 rs199657839 rs1554274880 rs1554274861 rs56092260 rs1801582 rs1801334 rs55830907 rs778125254 rs1554252200 rs191486604 rs397514694 rs149953814 rs778305273 |
| Subcellular location [CC] | Cytoplasm, cytosol {ECO:0000269|PubMed:10319893, ECO:0000269|PubMed:16955485, ECO:0000269|PubMed:17846173, ECO:0000269|PubMed:18957282, ECO:0000269|PubMed:19029340, ECO:0000269|PubMed:19229105, ECO:0000269|PubMed:19501131, ECO:0000269|PubMed:22082830, ECO:0000269|PubMed:23620051, ECO:0000269|PubMed:23933751, ECO:0000269|PubMed:24898855}. Nucleus {ECO:0000269|PubMed:16955485}. Endoplasmic reticulum {ECO:0000269|PubMed:19501131}. Mitochondrion {ECO:0000269|PubMed:18957282, ECO:0000269|PubMed:19029340, ECO:0000269|PubMed:19229105, ECO:0000269|PubMed:20889974, ECO:0000269|PubMed:22082830, ECO:0000269|PubMed:23620051, ECO:0000269|PubMed:23754282, ECO:0000269|PubMed:23933751, ECO:0000269|PubMed:24898855}. Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q9WVS6}. Cell projection, neuron projection {ECO:0000269|PubMed:12925569}. Postsynaptic density {ECO:0000250|UniProtKB:Q9WVS6}. Presynapse {ECO:0000250|UniProtKB:Q9WVS6}. Note=Mainly localizes in the cytosol (PubMed:19029340, PubMed:19229105). Co-localizes with SYT11 in neutrites (PubMed:12925569). Co-localizes with SNCAIP in brainstem Lewy bodies (PubMed:10319893, PubMed:11431533). Translocates to dysfunctional mitochondria that have lost the mitochondrial membrane potential; recruitment to mitochondria is PINK1-dependent (PubMed:24898855, PubMed:18957282, PubMed:19966284, PubMed:23620051). Mitochondrial localization also gradually increases with cellular growth (PubMed:22082830). {ECO:0000269|PubMed:10319893, ECO:0000269|PubMed:11431533, ECO:0000269|PubMed:12925569, ECO:0000269|PubMed:18957282, ECO:0000269|PubMed:19029340, ECO:0000269|PubMed:19229105, ECO:0000269|PubMed:19966284, ECO:0000269|PubMed:22082830, ECO:0000269|PubMed:23620051, ECO:0000269|PubMed:24898855}. |
| Mouse PG classification | NA |
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